The inv (4)(p13q13) cytogenetic abnormality is uncommon in hematologic malignancies. So far, it has not been previously reported in patients with essential thrombocythemia (ET). We report a first case of ET with inv (4)(p13q13) karyotype in a 69-year-old female patient who developed myelofibrosis at follow up. Conventional cytogenetic analysis from a bone marrow sample showed 46, XX, inv (4)(p13q13) [3]/46, XX [4] at diagnosis and subsequent analysis revealed the same abnormal karyotype during the myelofibrosis phase (46, XX, inv (4)(p13q13) [13]/46, XX [26]). The prognostic significance of this chromosomal abnormality is unknown.
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| http://dx.doi.org/10.1016/j.hemonc.2015.04.003 | DOI Listing |
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